Appendix C

Speaker Biographical Sketches

REBECCA BLANCHARD, PH.D., is the head of clinical pharmacogenomics within the Human Genetics and Pharmacogenomics department at Merck & Co., Inc. Dr. Blanchard’s career in academia and at Merck has spanned preclinical, translational, and clinical development across multiple therapeutic areas. Her education includes a B.S. in pharmacy from the Albany College of Pharmacy and a Ph.D. in pharmaceutical chemistry from the University of Utah in Salt Lake City. After receiving her Ph.D., Dr. Blanchard completed postdoctoral studies at the Mayo Clinic with a focus on human pharmacogenetics. From 1998 through 2004 Dr. Blanchard was an assistant professor at Fox Chase Cancer Center in Philadelphia, where she continued to investigate human pharmacogenetics with an emphasis on human sulfotransferase and UDP-glucuronosyltransferase genes. Her research at Fox Chase also focused on pharmacogenomics as related to anticancer therapies. In 2004, Dr. Blanchard joined Merck & Co., Inc., in Pennsylvania. She has held positions of increasing responsibility across several departments within the organization since her arrival. Dr. Blanchard has led several drug development teams across early- and late-stage development, with a recent focus on the identification of predictive biomarkers for drug response. In 2013 Dr. Blanchard accepted the position of head of clinical pharmacogenomics, where she is responsible for the scientific strategy and execution of Merck’s clinical pharmacogenomic efforts.

PHILIP JOHN (P. J.) BROOKS, PH.D., joined the National Center for Advancing Translational Sciences (NCATS) Division of Clinical Innovation (DCI) as a program director in January 2015. He is the lead program director for

the Clinical and Translational Science Awards (CTSA) Program Collaborative Innovation Awards, designed to fund projects that will result in novel and creative approaches to overcoming roadblocks in translational science (PAR-15-173). He also represents NCATS on the Trans-NIH Microbiome Working Group and Gene Therapy Working Group, and participates in the National Institutes of Health (NIH) Common Fund programs on extracellular RNA communication. He also works with the Office of Rare Diseases Research as a liason to several consortia within the Rare Disease Clinical Research Network. Dr. Brooks earned bachelor’s and master’s degrees in psychology and received his Ph.D. in neurobiology from the University of North Carolina at Chapel Hill. After completing a postdoctoral fellowship at the Rockefeller University, Dr. Brooks became an investigator in the intramural program of the National Institute on Alcohol Abuse and Alcoholism (NIAAA). He developed an internationally recognized research program focused on two distinct areas: the molecular basis of alcohol-related cancer, and rare neurologic diseases resulting from defective DNA repair. In addition to his position with DCI, Dr. Brooks is a guest researcher in the NIAAA Laboratory of Neurogenetics.

G. SCOTT CHANDLER, M.D., M.S., leads the licensing and early development safety group at Genentech/Roche, which focuses on the translational safety and risk management activities for exploratory development, as well as safety evaluations for licensing and partnering activities. This group takes an integrated and cross-functional approach to characterizing the safety profile of new molecules with the goal of proactively predicting and minimizing risk for early clinical development programs. As the science and practice of medicine continue to evolve and more efforts are focused on developing new therapies for fatal and life-threatening diseases, finding the balance between benefit and risk becomes ever more important. The development of predictive factors that may help identify patients at risk of certain toxicities may thus help guide more directed therapies that ultimately result in bringing the right medicine to the right patient at the right time. This “personalized safety” approach is an important component of precision medicine, central to personalized health care, and essential to bringing promising new medicines to patients in need. Dr. Chandler attended medical and graduate school at the University of California, Irvine, where he trained in medicine and toxicology. He then attended the University of California, Los Angeles, and underwent further training in general surgery, surgical oncology, and tumor immunology. He has been involved in national cooperative group clinical trials in surgical oncology and was a National Institutes of Health grant recipient for research in cancer immunotherapy. Over the past 14 years, Dr. Chandler has held multiple roles in the biotechnology and pharmaceutical industry across all phases of the

drug development life-cycle, with a focus on global drug safety, pharmacovigilance, and translational medicine.

MARNI FALK, M.D., received her B.S. in biology and her M.D. in a combined 7-year program from the George Washington University School of Medicine. Having graduated summa cum laude, she was a member of Phi Beta Kappa and the Alpha Omega Alpha Medical Honor Society. She completed dual specialty training in a 5-year pediatrics and clinical genetics residency program at Case Western Reserve University. Since 2006 she has been at the Children’s Hospital of Philadelphia (CHOP) and the University of Pennsylvania Perelman School of Medicine, where she is an associate professor in the Division of Human Genetics within the Department of Pediatrics. Board certified in clinical genetics and pediatrics, Dr. Falk established and directs the CHOP Mitochondrial Medicine Center to aid in the evaluation and management of individuals of all ages with suspected mitochondrial disease. She is actively involved in developing improved diagnostic approaches and resources for mitochondrial disease, including organization of a global Mitochondrial Disease Sequence Data Resource (MSeqDR) consortium. Dr. Falk is the principal investigator (PI) of a National Institutes of Health–funded translational research laboratory at CHOP that investigates the causes and global metabolic consequences of mitochondrial disease, as well as targeted pharmacologic therapies, in C. elegans, zebrafish, mouse, and human tissue models of genetic and pharmacologic-based respiratory chain dysfunction, with increasing transition to active clinical treatment trials. She has authored more than 80 publications in the areas of human genetics and mitochondrial disease. Dr. Falk also directs the CHOP/UPenn Mitochondria Research Affinity Group. She is a member of the scientific and medical advisory board of the United Mitochondrial Disease Foundation (UMDF); a member of the scientific advisory board of the Genesis Project; a founding member of the CHOP Center for Mitochondrial and Epigenomic Medicine; a CHOP-site PI of the North American Mitochondrial Disease Consortium; and a member of the Mitochondrial Medicine Society, the Society for Prevention Research, the Society for Inherited Metabolic Disorders, the American Society of Human Genetics, and the American College of Medical Genetics and Genomics.

MICHAEL FARKOUH, M.D., M.S.C., FRCPC, FACC, FAHA, is the Peter Munk Chair in Multinational Clinical Trials at the Peter Munk Cardiac Centre, the director of the Heart and Stroke/Richard Lewar Centre of Excellence in Cardiovascular Research, and a professor and the vice chair of research in the Department of Medicine at the University of Toronto. He is a graduate of the Schulich School of Medicine at Western University. Dr. Farkouh completed his internal medicine and cardiology training at the Mayo Clinic

and the Icahn School of Medicine at Mount Sinai New York, respectively, and holds an M.Sc. in clinical epidemiology from McMaster University. Prior to his current appointments, he served as the founding director of the Mount Sinai Cardiovascular Clinical Trials Unit in New York City. He has published more than 200 papers, largely on acute coronary syndromes and cardiovascular prevention. He has mentored numerous international residents and fellows and is active in teaching clinical research methodology. Dr. Farkouh is internationally known for his work on the management of acute coronary syndromes in the emergency room. He has a special interest and expertise in the field of cardiovascular disease in diabetic patients. He is currently the project officer for numerous clinical trials on questions related to diabetes and heart disease including the National Institutes of Health–sponsored FREEDOM trial and coordinates clinical studies in Grenada and Colombia. He chairs the committee on diabetes and heart disease at the Banting and Best Centre and at the University of Toronto. Dr. Farkouh has received the Gold Medal from John Paul II Hospital in Krakow, was elected teacher of the year at the Mayo Clinic, and was awarded the Jan J. Kellermann Memorial Award from the International Academy of Cardiology.

ROY HERBST, M.D., PH.D., is the Ensign Professor of Medicine, the chief of medical oncology, and the associate director for translational research at the Yale Cancer Center (YCC) and Yale School of Medicine, New Haven, Connecticut. He led Phase 1 development of several targeted agents for non-small cell lung cancer (NSCLC), including gefitinib, erlotinib, cetuximab, and bevacizumab. He was a co-leader of BATTLE-1 and co-leads the BATTLE-2 clinical trial. He served as a co-leader of the Developmental Therapeutics Program for the YCC Support Grant. Dr. Herbst’s laboratory work focuses on immunotherapy angiogenesis, EGFR/VEGFR inhibition in NSCLC, and targeting KRAS-activated pathways. This work has been translated from preclinical to clinical settings in multiple Phase II and Phase III studies. Dr. Herbst has authored or co-authored more than 300 publications, including peer-reviewed journal articles, abstracts, and book chapters. His work has appeared in many prominent journals. Work published in Nature was awarded the 2015 Herbert Pardes Clinical Research Excellence Award by the Clinical Research Forum. Dr. Herbst is a member of the American Association of Cancer Research, where he chairs the Tobacco Task Force, as well as the American Society of Clinical Oncology. He is a fellow of the American College of Physicians and an elected member of the Association of American Physicians. He is vice chair for developmental therapeutics for Southwestern Oncology Group’s (SWOG’s) lung committee, a principal investigator of the SWOG 0819 trial, and the steering committee chair for the Lung Master Protocol. In 2015 his team at Yale was awarded a lung cancer

SPORE by the National Cancer Institutes, and he serves as a principal investigator for the American Association for Cancer Research (AACR)/Stand Up to Cancer Dream Team grant. For his lifetime achievement in scientific contributions to thoracic cancer research, Dr. Herbst was awarded the 2016 Paul A. Bunn, Jr. Scientific Award by the International Association for the Study of Lung Cancer at the organization’s 17th World Conference on Lung Cancer.

ZACHARY HORNBY, M.S., M.B.A., brings a dozen years of life sciences business experience to Ignyta. Prior to joining Ignyta, Mr. Hornby was the senior director of business development at Fate Therapeutics, where he was responsible for pharmaceutical partnerships and non-dilutive funding. Mr. Hornby has also served in various business and commercial roles at Halozyme Therapeutics, Neurocrine Biosciences, and TKT (now Shire Human Genetic Therapies), and he was a life sciences consultant at L.E.K. Consulting. Mr. Hornby is a director of Independa, Inc. Mr. Hornby holds B.S. and M.S. degrees in biology from Stanford University and an M.B.A. from Harvard Business School.

JESSICA LANGBAUM, PH.D., is a principal scientist at the Banner Alzheimer’s Institute and the associate director of the Alzheimer’s Prevention Initiative (API). Dr. Langbaum is the director of the Alzheimer’s Prevention Registry and its GeneMatch program. In addition, she is responsible for the scientific and operational oversight of the API clinical trials program. Her research interests include the preclinical detection, tracking, and scientific study of Alzheimer’s disease, including the design and execution of Alzheimer’s disease prevention trials; the development of composite cognitive test scores for use as primary endpoints in clinical trials, including the API ADAD composite cognitive test score and the API preclinical composite cognitive test score; the development of recruitment registries to accelerate enrollment into studies; and assessing the impact of genetic testing and disclosure in the era of Alzheimer’s prevention research. She serves on several national and international advisory boards and councils. Dr. Langbaum earned a bachelor’s degree in neuroscience and psychology with high honors from Oberlin College and a Ph.D. in psychiatric epidemiology from the Johns Hopkins Bloomberg School of Public Health, and she completed her postdoctoral fellowship in brain imaging and clinical trials at Banner Alzheimer’s Institute.

DAVID LEVENTHAL, M.B.A., leads patient engagement initiatives in Pfizer Global Product Development and is responsible for putting tools in place that support patient insights for the full development portfolio. He has been with Pfizer for 21 years and in that time has served in a variety of research and development and technology functions, including program management, business management, and clinical trial operations.

MATTHEW NELSON, PH.D., is the head of Genetics at GlaxoSmithKline, working in Philadelphia, Pennsylvania, leading a group of scientists to bring genetic evidence into both drug discovery and drug development decisions. Research activities of personal interest include investigating the role of growing body genome-wide association studies to inform drug target selection and validation, improving pharmacogenetics experiment design, and developing methods and strategies for drawing inferences from both small- and large-scale genetic association studies. Dr. Nelson graduated from the University of Michigan in statistics and human genetics. He has previously worked for Sequenom and Esperion Therapeutics.

ROBERT NUSSBAUM, M.D., FACP, FACMG, is currently the chief medical officer of Invitae, a genetic information and diagnostic company. From 2006 to 2015, he was the Holly Smith Professor of Medicine at the University of California, San Francisco (UCSF), the chief of the Division of Genomic Medicine, and the medical director of both the Cancer Risk Program and the UCSF Program in Cardiovascular Genetics. He came to UCSF in 2006 from the Division of Intramural Research of the National Human Genome Research Institute at the National Institutes of Health, where he served for 12 years as the chief of the Genetic Diseases Research and Inherited Disease Research Branches. He received his training in medicine in the Harvard University–Massachusetts Institute of Technology Joint Program in Health Technology, his internal medicine training at Barnes Hospital/Washington University, and his genetics training at Baylor College of Medicine. He is board certified in internal medicine, clinical genetics, and clinical molecular genetics. Dr. Nussbaum was awarded the Klaus Joachim Zülch-Prize for Neurological Research and the Jay Van Andel Award for Outstanding Achievement in Parkinson’s Disease Research for his work on hereditary Parkinson’s disease. He is the co-author of more than 200 peer-reviewed publications on a broad range of topics in basic and applied human genetics and is co-author with Roderick M. McInnes and Huntington F. Willard of the popular textbook of human genetics, Thompson and Thompson’s Genetics in Medicine. Dr. Nussbaum served as a director and treasurer of the American Board of Medical Genetics and Genomics, as a director of the American College of Medical Genetics and Genomics, and as a director and president of the American Society of Human Genetics. He was elected to the National Academy of Medicine in 2004 and the American Academy of Arts and Sciences in 2015. He served on the National Academies of Sciences, Engineering, and Medicine committee that submitted the 2016 report Biomarker Tests for Molecularly Targeted Therapies.

MICHAEL PACANOWSKI, PHARM.D., M.P.H., is the associate director for genomics and targeted therapy of the U.S. Food and Drug Administration’s

Office of Clinical Pharmacology. He and his team of translational scientists are charged with advancing precision drug development approaches through genomic and other biomarker innovations. To that end, Dr. Pacanowski oversees a program focused on new drug review, policy development, and regulatory science research. Dr. Pacanowski received his Pharm.D. from the Philadelphia College of Pharmacy and his M.P.H. from the University of Florida. He completed a residency in clinical pharmacology at Bassett Healthcare in Cooperstown, New York, and a clinical research fellowship in cardiovascular pharmacogenomics at the University of Florida.

JANE PERLMUTTER, PH.D., M.B.A., is a more than 30-year cancer survivor; since her diagnosis in 1985 she has been involved in a wide range of advocacy activities. While her advocacy is largely rooted in her own experiences, it is informed by her formal training in cognitive psychology and experimental methods, and her career has included many years in academia, not-for-profit research and development, corporate senior management and independent consulting. Much of Dr. Perlmutter’s advocacy has focused on clinical trials—ensuring that the patient voice is considered in the selection of research questions and that the design of trial protocols is sensitive to patient issues as well as encouraging innovation to increase the speed of developing new treatments. She is especially interested in innovative trial designs that can speed new treatments to patients who need them; she serves on the steering committees and is lead advocate on the I-SPY 2 and TAPUR trials, two groundbreaking trials. Over the past 5 years Dr. Perlmutter has cut back on her paid consulting, and she now spends a majority of her time devoted to advocacy. During this time her involvement has expanded beyond cancer and is increasingly focused on health research policy. For example, she has been on the steering committee of the Clinical Trials Transformation Initiative and is involved in their projects related to improving informed consent, establishing best practices for data monitoring committees, the use of a single institutional review board for multi-site trials, and the use of real-world evidence. She has also have been involved in a number of National Cancer Institute working groups and in Reagan-Udall’s Integrated Medical Environment Decision Support steering committee, and she co-chairs the Patient-Centered Outcomes Research Institute Patient Engagement Advisory Board, the Multi-Regional Clinical Trials Returning Results Work Group, and the National Academies of Sciences, Engineering, and Medicine consensus committee on Biomarkers for Molecularly Targeted Therapies.

ROBERT PLENGE, M.D., PH.D., was the vice president at Merck Research Laboratories in Boston and its head of the translation medicine group at the time of the workshop. Merck’s translation medicine group consists of

approximately 300 scientists responsible for translating basic science into therapeutic trials. They identify novel targets and pathways based on causal human biology (e.g., human genetics, pharmacological perturbations). As therapeutic compounds advance through the drug discovery process, they develop biomarkers using advancing imaging techniques and molecular assays to robustly measure target engagement and modulation. The team of clinical pharmacologists is responsible for conducting first-in-human studies, clinical proof-of-concept trials, and additional Phase I/IIa studies to support registration in all therapeutic areas outside of oncology. Ultimately, the group’s goal is to increase the probability of success for delivering therapies that matter in humans. Prior to joining Merck in July 2013, Dr. Plenge served as the director of genetics and genomics in the Division of Rheumatology, Immunology and Allergy at Brigham and Women’s Hospital; an assistant professor of medicine at Harvard Medical School; and an associate member of the Broad Institute of the Massachusetts Institute of Technology and Harvard University. His academic research focused on the genetic and genomic underpinnings of complex human disease, with attention to immune-mediated diseases such rheumatoid arthritis (RA). He led multidisciplinary teams that identified new genetic risk factors for RA and other complex traits, performed functional studies of risk alleles to understand fundamental disease mechanisms, analyzed clinical data from electronic medical records for discovery research in collaboration with i2b2, and investigated pharmacogenomic predictors of efficacy and toxicity as part of the National Institutes of Health–funded Pharmacogenomic Research Network. His original research has been published in Nature, New England Journal of Medicine, Science, Nature Genetics, and other top-tiered medical journals (more than 100 publications with approximately 20,000 citations to date). Dr. Plenge graduated cum laude with a bachelor of science from the University of California, San Diego, in 1992; received his M.D. and Ph.D. degrees from Case Western Reserve University in 2000 (thesis advisor Hunt Willard); completed his internal medicine residency as a molecular medicine fellow at University of California, San Francisco, in 2002; and served as rheumatology fellow at Brigham and Women’s Hospital from 2002 to 2006 and postdoctoral research fellow at the Broad Institute from 2003 to 2007 (advisor David Altshuler). Between 2007 and 2013, he was on the faculty of Harvard Medical School and an associate member of the Broad Institute while practicing clinical rheumatology and running a research laboratory at Brigham and Women’s Hospital.

JOHN STAROPOLI, M.D., PH.D., is a physician-scientist with 15 years of training and board-certification in clinical pathology and molecular genetic pathology. Dr. Staropoli is currently the associate medical director in the Rare Disease Innovation Unit at Biogen. His areas of expertise include

neurodegenerative disease (including spinal muscular atrophy, Batten disease, and Parkinson’s disease); hematopathology, oncology, and immunology; molecular diagnostics and laboratory management; and human genetics and genomics. He has experience in all phases of drug development from exploratory to postmarket research. In addition he was a postdoctoral research fellow at Center for Human Genetic Research (June 2010 to May 2013) and a resident and clinical fellow at Massachusetts General Hospital (June 2006 to June 2010). He received his M.D. and Ph.D. in cellular, molecular, and biophysical studies from Columbia University in 2006 and his B.A. in molecular biology from Princeton University in 1998.

THERESA STRONG, PH.D., received a B.S. from Rutgers University and a Ph.D. in medical genetics from the University of Alabama at Birmingham (UAB). She performed postdoctoral studies at the University of Michigan in the laboratory of Francis Collins, studying the molecular basis of cystic fibrosis and Huntington disease. After her postdoctoral training, she returned to the faculty at UAB, where her research focused on developing gene therapy approaches for cancer. During a 20-year career at UAB, she became the director of UAB’s Vector Production Facility, which produces novel biologics for early stage clinical trials, and a professor in the Department of Medicine. Dr. Strong has a son with Prader-Willi syndrome (PWS) and in 2003 co-founded the Foundation for Prader-Willi Research (FPWR, www.fpwr.org), a nonprofit organization that advances research in this rare disorder. She has chaired FPWR’s scientific advisory board since its inception and has worked extensively with industry, parent advocates, and academicians to help advance clinical trials in PWS. She also serves as a member of the Steering Committee of Clinical Trials Transformation Initiative. In 2016 she transitioned to a full-time position as the director of research programs at FPWR. She remains an adjunct professor in the Department of Genetics at UAB.

MARK TRUSHEIM, M.S., is a visiting scientist at the Massachusetts Institute of Technology (MIT) Sloan School of Management and a member of the MIT Center for Biomedical Innovation. He is the founder and president of Co-Bio Consulting, LLC, and has been a special government employee for the U.S. Food and Drug Administration’s Office of the Commissioner. Mr. Trusheim’s research focuses on the economics of biomedical innovation, especially precision medicine; adaptive pathways; platform trials; and their enablement by digital health advances. He also studies biotechnology regional clusters. His work emphasizes using quantitative modeling in multi-stakeholder processes to inform public policy, corporate strategy, and product development and commercialization. Prior to MIT, his career spanned big data and simulations at Kenan Systems, marketing

at Searle Pharmaceuticals, eHealth as vice president of Monsanto Health Solutions, genomics as president of Monsanto’s Cereon Genomics, molecular diagnostics as chief executive officer of start-up Cantata Laboratories, and policy as the president of the Massachusetts Biotechnology Council. Mr. Trusheim was a member of the Monsanto Pipeline Management Team and led the Monsanto bioinformatics/information technology activities. He is a frequent invited speaker on precision medicine, companion diagnostics, adaptive pathways, and regional life sciences development at international conferences. He holds degrees in chemistry from Stanford University and management (finance and information technology) from MIT.

L. KEOKI WILLIAMS, M.D., M.P.H., is both a practicing internist and the associate director for the Center for Health Policy and Health Services Research at Henry Ford Health System. He has received six separate R01 awards from the National Institutes of Health. The scope of his research encompasses genomics, transcriptomics, pharmacoepidemiology, and pharmacogenomics. His particular interests include identifying disparate treatment effects and novel response loci in diverse patient populations. His work includes methods to account for underlying population structure and ancestral diversity in pharmacogenomics studies, as well as ways to leverage medical records data in order to assess drug exposure continuously and longitudinally in large patient populations (i.e., without the need for clinical trials). His group has demonstrated the power of combining these methods with omics data to identify novel genetic predictors of drug response. He and his colleagues have been actively involved in large-scale pharmacogenomics projects of medications commonly used in the treatment of asthma, diabetes, and heart failure. Dr. Williams is the principal investigator of the Study of Asthma Phenotypes and Pharmacogenomic Interactions by Race-Ethnicity, which at more than 7,500 participants is one of the largest asthma pharmacogenomics studies to date.